Article
Establishment and characterization of CSCRi006-A: an induced pluripotent stem cell line generated from a patient with Diamond-Blackfan Anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation.
Human cell - 1 Nov 2023
Rani Sonam, Thamodaran Vasanth, Nandy Krittika, Fouzia N A, Maddali Madhavi, Rajesh Praveena, Vijayanand S, David Ernest, Velayudhan Shaji R
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a congenital hypoplastic anemia characterized by ineffective erythropoiesis. DBA is majorly caused by mutations in the ribosomal protein (RP) genes (Gadhiya and Wills in Diamond-Blackfan Anemia, https://www.statpearls.com/ ; 2023). A suitable disease model that yields a continuous supply of erythroid cells is required to study disease pathogenesis and drug discovery. Toward this,...
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